Varaico: Literature-Extracted Genetic Variants

ZNF117

47 papers

RefSeq Summary

This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus,...

Pfam Domains

zf-C2H2aa 109–130UCSCZinc finger, C2H2 type

zf-H2C2_2aa 151–176UCSCZinc-finger double domain

zf-C2H2aa 193–215UCSCZinc finger, C2H2 type

zf-C2H2aa 221–243UCSCZinc finger, C2H2 type

zf-C2H2aa 249–271UCSCZinc finger, C2H2 type

zf-C2H2aa 277–299UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 117

HGNC Alias Symbols

HPF9; H-plk

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

10 papers

NM_015852.5

p.R428*

c.1282C>T

4 papers

NM_015852.5

p.K112N

c.336A>T

4 papers

NM_015852.5

p.K112N

c.336A>C

4 papers

NM_015852.5

p.G364E

c.1091G>A

3 papers

NM_015852.5

p.R185I

c.554G>T

3 papers

NM_015852.5

p.E189G

c.566A>G

3 papers

NM_015852.5

p.L416P

c.1247T>C

2 papers

NM_015852.5

p.R157I

c.470G>T

1 paper

NM_015852.5

p.Y16*

c.48T>G

1 paper

NM_015852.5

p.Y16*

c.48T>A

1 paper

NM_015852.5

p.P23T

c.67C>A

1 paper

NM_015852.5

p.Q32*

c.94C>T